Bare Lymphocyte Syndrome, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BLS1 MCID: BRL011 MIFTS: 41	Bare Lymphocyte Syndrome, Type I (BLS1) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I ⁵⁸ ¹³ ⁷⁴

Hla Class I Deficiency ⁵⁸ ¹² ²⁶ ⁷⁶ ⁵⁶

Bare Lymphocyte Syndrome Type I ¹² ²⁶

Mhc Class I Deficiency ¹² ¹⁵

Bls, Type I ⁵⁸ ¹²

Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency ⁵⁸

Major Histocompatibility Complex Class 1 Deficiency ⁵⁴

Bare Lymphocyte Syndrome 1 ⁷⁶

Mhc Class 1 Deficiency ⁵⁴

Bls Type I ⁷⁶

Bls I ⁷⁶

Blsi ¹²

Bls1 ⁷⁶

Bl-1 ¹⁷

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy

HPO:

³³

bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Gastrointestinal diseases Blood diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Major histocompatibility complex class I deficiency

External Ids:

Disease Ontology ¹² DOID:0060009

OMIM ⁵⁸ 604571

MeSH ⁴⁵ D007153

ICD10 ³⁴ D81.6

MedGen ⁴³ C1858266

SNOMED-CT via HPO ⁷⁰ 12295008 21186006 258211005 more

EFO ¹⁷ EFO_0005173

UMLS ⁷⁴ C1858266

Sources

Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : ²⁶ Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to immunodeficiency by defective expression of hla class 1 and bare lymphocyte syndrome, type ii. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Human cytomegalovirus infection. Affiliated tissues include lung, skin and b cells, and related phenotypes are chronic otitis media and emphysema

Disease Ontology : ¹² A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has material basis in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.

UniProtKB/Swiss-Prot : ⁷⁶ Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

Description from OMIM: 604571

Sources

Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency by defective expression of hla class 1	29.8	TAP1 TAP2 TAPBP
2	bare lymphocyte syndrome, type ii	29.6	RFX5 RFXANK RFXAP TAP2
3	orbital melanoma	10.2	TAP1 TAPBP
4	burkitt lymphoma	10.1
5	lymphoma	10.1
6	idiopathic bronchiectasis	10.1	TAP1 TAP2
7	melanoma	10.1
8	bronchiectasis	10.0
9	panbronchiolitis, diffuse	10.0
10	combined t cell and b cell immunodeficiency	10.0	RFX5 RFXAP
11	lung cancer susceptibility 3	9.9
12	adenocarcinoma	9.9
13	fibrosarcoma	9.9
14	spondylitis	9.9	TAP1 TAP2
15	severe combined immunodeficiency	9.7	RFX5 RFXANK RFXAP
16	mature b-cell neoplasm	9.6	CD40 RFXANK

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:

Sources

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

³³ (show all 9)

#	Description	HPO Source Accession
1	chronic otitis media ³³	HP:0000389
2	emphysema ³³	HP:0002097
3	skin ulcer ³³	HP:0200042
4	ectopia lentis ³³	HP:0001083
5	nasal polyposis ³³	HP:0100582
6	bronchiectasis ³³	HP:0002110
7	chronic sinusitis ³³	HP:0011109
8	bronchiolitis ³³	HP:0011950
9	recurrent bronchitis ³³	HP:0002837

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchiolitis
bronchitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
more

Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Clinical features from OMIM:

604571

Sources

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

Sources

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Sources

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

⁴²

Lung, Skin, B Cells, T Cells

Sources

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

#	Title	Authors	Year
1	HLA class I deficiency as an additional cause of bronchiectasis. ( 26172480 )	Zimmer J...Ollert M	2015
2	HLA class I deficiency as an additional cause of bronchiectasis - Reply. ( 26172572 )	Guan WJ...Zhong NS	2015
3	HLA class I deficiency syndrome mimicking Wegener's granulomatosis. ( 18668571 )	Villa-Forte A...Zimmer J	2008
4	Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ( 17879436 )	de la Salle H...Ikinciogullari A	2007
5	Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ( 17879452 )	de la Salle H...Hogan P	2007
6	Clinical and immunological aspects of HLA class I deficiency. ( 16087697 )	Zimmer J...de la Salle H	2005
7	Granulomatous disease associated with HLA class I deficiency. ( 11298563 )	Hauser C	2001
8	Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )	Azuma A...Kudoh S	2001
9	Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )	Furukawa H...Juji T	1999
10	Homozygous human TAP peptide transporter mutation in HLA class I deficiency. ( 7517574 )	de la Salle H...Laforet M	1994

Sources

Genes for Bare Lymphocyte Syndrome, Type I

Genes related to Bare Lymphocyte Syndrome, Type I (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TAPBP	TAP Binding Protein	Protein Coding	926.02	Molecular basis known ⁵⁸ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	12149238
2	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	925.24	Molecular basis known ⁵⁸ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	10074495
3	TAP2	Transporter 2, ATP Binding Cassette Subfamily B Member	Protein Coding	900	Molecular basis known ⁵⁸ Pathogenic ⁶
4	RFXAP	Regulatory Factor X Associated Protein	Protein Coding	16.25	DISEASES inferred ¹⁵
5	RFX5	Regulatory Factor X5	Protein Coding	15.97	DISEASES inferred ¹⁵
6	LIMK1	LIM Domain Kinase 1	Protein Coding	14.86	DISEASES inferred ¹⁵
7	KLRC1	Killer Cell Lectin Like Receptor C1	Protein Coding	14.76	DISEASES inferred ¹⁵
8	RFXANK	Regulatory Factor X Associated Ankyrin Containing Protein	Protein Coding	14.7	DISEASES inferred ¹⁵
9	CD40	CD40 Molecule	Protein Coding	14.27	DISEASES inferred ¹⁵
10	CXCL11	C-X-C Motif Chemokine Ligand 11	Protein Coding	14.19	DISEASES inferred ¹⁵

Sources

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

⁶ (show top 50) (show all 222)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TAPBP	TAPBP, 7.4-KB DEL	deletion	Pathogenic
2	TAP2	NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr)	single nucleotide variant	Benign	rs241447	GRCh37	Chromosome 6, 32796751: 32796751
3	TAP2	NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr)	single nucleotide variant	Benign	rs241447	GRCh38	Chromosome 6, 32828974: 32828974
4	TAP2	NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter)	single nucleotide variant	Benign	rs241448	GRCh37	Chromosome 6, 32796685: 32796685
5	TAP2	NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter)	single nucleotide variant	Benign	rs241448	GRCh38	Chromosome 6, 32828908: 32828908
6	TAP2	TAP2, ARG253TER	single nucleotide variant	Pathogenic
7	TAP2	TAP2, 1-BP DEL	deletion	Pathogenic
8	TAP1	NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln)	single nucleotide variant	Uncertain significance	rs121917702	GRCh37	Chromosome 6, 32814909: 32814909
9	TAP1	NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln)	single nucleotide variant	Uncertain significance	rs121917702	GRCh38	Chromosome 6, 32847132: 32847132
10	TAP1	TAP1, IVS1, G-A, -1	single nucleotide variant	Pathogenic
11	TAP2	NM_000544.3(TAP2): c.44T> C (p.Val15Ala)	single nucleotide variant	Benign/Likely benign	rs55827768	GRCh37	Chromosome 6, 32805967: 32805967
12	TAP2	NM_000544.3(TAP2): c.44T> C (p.Val15Ala)	single nucleotide variant	Benign/Likely benign	rs55827768	GRCh38	Chromosome 6, 32838190: 32838190
13	TAP2	NM_000544.3(TAP2): c.1147C> T (p.Leu383=)	single nucleotide variant	Likely benign	rs761704456	GRCh38	Chromosome 6, 32832458: 32832458
14	TAP2	NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile)	indel	Benign	rs369909014	GRCh37	Chromosome 6, 32798457: 32798458
15	TAP2	NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile)	indel	Benign	rs369909014	GRCh38	Chromosome 6, 32830680: 32830681
16	TAP2	NM_000544.3(TAP2): c.1147C> T (p.Leu383=)	single nucleotide variant	Likely benign	rs761704456	GRCh37	Chromosome 6, 32800235: 32800235
17	TAP2	NM_000544.3(TAP2): c.918G> A (p.Ala306=)	single nucleotide variant	Benign	rs556799828	GRCh38	Chromosome 6, 32835181: 32835181
18	TAP2	NM_000544.3(TAP2): c.918G> A (p.Ala306=)	single nucleotide variant	Benign	rs556799828	GRCh37	Chromosome 6, 32802958: 32802958
19	TAP2	NM_000544.3(TAP2): c.658C> A (p.Arg220=)	single nucleotide variant	Benign	rs142794316	GRCh38	Chromosome 6, 32835724: 32835724
20	TAP2	NM_000544.3(TAP2): c.658C> A (p.Arg220=)	single nucleotide variant	Benign	rs142794316	GRCh37	Chromosome 6, 32803501: 32803501
21	TAP2	NM_000544.3(TAP2): c.222C> A (p.Pro74=)	single nucleotide variant	Benign	rs2229526	GRCh37	Chromosome 6, 32805789: 32805789
22	TAP2	NM_000544.3(TAP2): c.222C> A (p.Pro74=)	single nucleotide variant	Benign	rs2229526	GRCh38	Chromosome 6, 32838012: 32838012
23	TAP1	NM_000593.5(TAP1): c.2163G> A (p.Pro721=)	single nucleotide variant	Benign	rs41551515	GRCh37	Chromosome 6, 32814902: 32814902
24	TAP1	NM_000593.5(TAP1): c.2163G> A (p.Pro721=)	single nucleotide variant	Benign	rs41551515	GRCh38	Chromosome 6, 32847125: 32847125
25	TAP1	NM_000593.5(TAP1): c.919G> A (p.Gly307Arg)	single nucleotide variant	Uncertain significance	rs59328013	GRCh38	Chromosome 6, 32852214: 32852214
26	TAP1	NM_000593.5(TAP1): c.919G> A (p.Gly307Arg)	single nucleotide variant	Uncertain significance	rs59328013	GRCh37	Chromosome 6, 32819991: 32819991
27	TAP1	NM_000593.5(TAP1): c.229G> C (p.Gly77Arg)	single nucleotide variant	Benign	rs57640466	GRCh38	Chromosome 6, 32853588: 32853588
28	TAP1	NM_000593.5(TAP1): c.229G> C (p.Gly77Arg)	single nucleotide variant	Benign	rs57640466	GRCh37	Chromosome 6, 32821365: 32821365
29	TAPBP	NM_003190.4(TAPBP): c.972G> A (p.Gly324=)	single nucleotide variant	Benign	rs61739590	GRCh38	Chromosome 6, 33304535: 33304535
30	TAPBP	NM_003190.4(TAPBP): c.972G> A (p.Gly324=)	single nucleotide variant	Benign	rs61739590	GRCh37	Chromosome 6, 33272312: 33272312
31	TAPBP	NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser)	single nucleotide variant	Uncertain significance	rs561629511	GRCh38	Chromosome 6, 33305295: 33305295
32	TAPBP	NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser)	single nucleotide variant	Uncertain significance	rs561629511	GRCh37	Chromosome 6, 33273072: 33273072
33	TAP2	NM_000544.3(TAP2): c.1826C> T (p.Ala609Val)	single nucleotide variant	Benign	rs74770812	GRCh38	Chromosome 6, 32829506: 32829506
34	TAP2	NM_000544.3(TAP2): c.1826C> T (p.Ala609Val)	single nucleotide variant	Benign	rs74770812	GRCh37	Chromosome 6, 32797283: 32797283
35	TAP2	NM_000544.3(TAP2): c.1161G> A (p.Val387=)	single nucleotide variant	Benign	rs2856992	GRCh37	Chromosome 6, 32800221: 32800221
36	TAP2	NM_000544.3(TAP2): c.1161G> A (p.Val387=)	single nucleotide variant	Benign	rs2856992	GRCh38	Chromosome 6, 32832444: 32832444
37	TAP2	NM_000544.3(TAP2): c.1144-6_1144-5delinsAC	indel	Benign	rs386699797	GRCh37	Chromosome 6, 32800243: 32800244
38	TAP2	NM_000544.3(TAP2): c.1144-6_1144-5delinsAC	indel	Benign	rs386699797	GRCh38	Chromosome 6, 32832466: 32832467
39	TAP2	NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr)	single nucleotide variant	Benign	rs111303994	GRCh38	Chromosome 6, 32832650: 32832650
40	TAP2	NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr)	single nucleotide variant	Benign	rs111303994	GRCh37	Chromosome 6, 32800427: 32800427
41	TAP2	NM_000544.3(TAP2): c.4C> T (p.Arg2Trp)	single nucleotide variant	Benign	rs61736918	GRCh38	Chromosome 6, 32838230: 32838230
42	TAP2	NM_000544.3(TAP2): c.4C> T (p.Arg2Trp)	single nucleotide variant	Benign	rs61736918	GRCh37	Chromosome 6, 32806007: 32806007
43	TAP1	NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Benign	rs1057149	GRCh38	Chromosome 6, 32847165: 32847165
44	TAP1	NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Benign	rs1057149	GRCh37	Chromosome 6, 32814942: 32814942
45	TAP1	NM_000593.5(TAP1): c.1732G> A (p.Val578Ile)	single nucleotide variant	Benign	rs41561219	GRCh38	Chromosome 6, 32848666: 32848666
46	TAP1	NM_000593.5(TAP1): c.1732G> A (p.Val578Ile)	single nucleotide variant	Benign	rs41561219	GRCh37	Chromosome 6, 32816443: 32816443
47	TAP1	NM_000593.5(TAP1): c.1552G> T (p.Val518Leu)	single nucleotide variant	Benign	rs41550019	GRCh37	Chromosome 6, 32816772: 32816772
48	TAP1	NM_000593.5(TAP1): c.1552G> T (p.Val518Leu)	single nucleotide variant	Benign	rs41550019	GRCh38	Chromosome 6, 32848995: 32848995
49	TAP1	NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys)	single nucleotide variant	Benign	rs2228110	GRCh38	Chromosome 6, 32849112: 32849112
50	TAP1	NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys)	single nucleotide variant	Benign	rs2228110	GRCh37	Chromosome 6, 32816889: 32816889

Sources

Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

Sources

Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁷ Show member pathways Adaptive Immune System ⁶⁷ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁷	12.9	CD40 KLRC1 TAP1 TAP2 TAPBP
2	Human cytomegalovirus infection ³⁸ Show member pathways Human immunodeficiency virus 1 infection ³⁸ Kaposi sarcoma-associated herpesvirus infection ³⁸	12.46	LIMK1 TAP1 TAP2 TAPBP
3	Allograft rejection ³⁸ ¹ Show member pathways Antigen processing and presentation ³⁸ Asthma ³⁸ Autoimmune thyroid disease ³⁸ CTL Mediated Apoptosis ⁶⁵ Graft-versus-host disease ³⁸ Intestinal immune network for IgA production ³⁸ THC Differentiation Pathway ⁶⁵ Type I diabetes mellitus ³⁸ Viral myocarditis ³⁸	12.35	CD40 CXCL11 KLRC1 RFX5 RFXANK RFXAP
4	Antigen processing-Cross presentation ⁶⁷ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁷ Endosomal/Vacuolar pathway ⁶⁷ ER-Phagosome pathway ⁶⁷ Immune response Antigen presentation by MHC class I ²³	12.03	TAP1 TAP2 TAPBP
5	Tuberculosis ³⁸	11.69	RFX5 RFXANK RFXAP
6	Microglia Activation During Neuroinflammation: Microglia Polarization ⁶⁶	11.28	CD40 CXCL11
7	Antigen Presentation- Folding, assembly and peptide loading of class I MHC ⁶⁷	10.73	TAP1 TAP2 TAPBP
8	Primary immunodeficiency ³⁸	10.67	CD40 RFX5 RFXANK RFXAP TAP1 TAP2

Sources

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear speck	GO:0016607	9.5	LIMK1 RFXAP TAP2
2	phagocytic vesicle membrane	GO:0030670	9.43	TAP1 TAP2 TAPBP
3	endoplasmic reticulum-Golgi intermediate compartment membrane	GO:0033116	9.33	TAP1 TAP2 TAPBP
4	TAP complex	GO:0042825	8.96	TAP1 TAP2
5	MHC class I peptide loading complex	GO:0042824	8.8	TAP1 TAP2 TAPBP

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	antigen processing and presentation of peptide antigen via MHC class I	GO:0002474	9.43	TAP1 TAP2 TAPBP
2	peptide transport	GO:0015833	9.4	TAP1 TAP2
3	amide transport	GO:0042886	9.37	TAP1 TAPBP
4	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.33	TAP1 TAP2 TAPBP
5	cytosol to ER transport	GO:0046967	9.32	TAP1 TAP2
6	antigen processing and presentation of endogenous peptide antigen via MHC class I	GO:0019885	9.13	TAP1 TAP2 TAPBP
7	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	GO:1990668	8.8	TAP1 TAP2 TAPBP

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	9.46	TAP1 TAP2
2	peptide antigen binding	GO:0042605	9.43	TAP1 TAPBP
3	MHC class I protein binding	GO:0042288	9.4	TAP1 TAPBP
4	MHC protein binding	GO:0042287	9.37	TAP1 TAP2
5	peptide transmembrane transporter activity	GO:1904680	9.32	TAP1 TAP2
6	MHC class Ib protein binding	GO:0023029	9.26	TAP1 TAP2
7	TAP2 binding	GO:0046979	9.16	TAP1 TAPBP
8	TAP1 binding	GO:0046978	9.13	TAP1 TAP2 TAPBP
9	peptide antigen-transporting ATPase activity	GO:0015433	8.8	TAP1 TAP2 TAPBP

Sources

Sources for Bare Lymphocyte Syndrome, Type I

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bare Lymphocyte Syndrome, Type I (BLS1)

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bare Lymphocyte Syndrome, Type I

Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

Genes for Bare Lymphocyte Syndrome, Type I

Genes related to Bare Lymphocyte Syndrome, Type I (3 elite genes):

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

Expression for Bare Lymphocyte Syndrome, Type I

Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

Sources for Bare Lymphocyte Syndrome, Type I